Muscular Dystrophy Ai Sato HED 330 Fall 2002

Definition Muscular dystrophy is a group of disorders recognized by progressive muscle weakness and loss of muscle tissue.

Who Discovered Muscular Dystrophy Each neuromuscular disease (muscular dystrophy) was discovered by different person.

43 Different Types of Neuromuscular Diseases Acid maltase deficiency (Pompe's disease) Amytrophic lateral sclerosis (ALS) Ataxia Becker Carnitine deficiency Carnitine Palmityl Transferase deficiency Central core disease Charcot-marie_Tooth disease Congenital Congenital Myasthenic syndrome Debrancher enzyme deficiency (Cori's or Forbes' disease) Dejerine-Sottas disease (progressive Hypertrophic interstitial neuropathy) Dermatomyosis Distal Duchenne Emery-Dreifus muscular dystrophy Facioscapulohumeral

43 Different Types of Neuromuscular Diseases Fibrodysplasia Ossificans Progressiva Hyperthyroid Myopathy Hypothyroid Myopathy Inclusion body Myositis Lactate Dehydrogenase deficiency Lambert-Eaton syndrome Limb girdle Mitochrondrial and metabolic disorders Mitochondrial Myopathy Myasthenia gravis Myoadenylate Deaminase deficiency Myotonia Congenita (Thomsen's and Becker's disease) Myotonic Myotubular Myopathy Nemaline Myopathy Oculopharyngeal muscular dystrophy Paramyotonia Congenita

43 Different Types of Neuromuscular Diseases Periodic paralysis (Hypokalemic and Hyperkalemic) Phosphofructokinase deficiency (Tarui's disease) Phosphoglycerate Kinase deficiency Phosphoglycerate Mutase deficiency Phosphorylase deficiency (McArdie's disease) Polymyositis Spinal bulbar muscular atrophy Spinal muscular atrophy Spinal muscular atrophy (type 1) Spinal muscular atrophy (type 2) Spinal muscular atrophy (type 3)

Symptoms Symptoms vary with the different types of muscular dystrophy. Certain types, such as Duchnne dystrophy, are ultimately fatal while other types have associated muscle weakness but cause little disability.

Symptoms Intellectual retardation  Only present in some types of Muscular Dystrophy Hypotonia Skeletal deformities

Basic Symptoms Muscle weakness  Progressive  Frequent falls  Delayed development of muscle skills  Problems walking  Difficulty using a muscle group (specific muscle depends on the type of MD)  Eyelid drooping  Drooling

Basic Symptoms Muscle deformities Contracture deformities (clubfoot, clawhand or others) Scoliosis Enlargement of the calve muscles (pseudohypertrophy)

Causes Inheritance Dominant genes Recessive gene Depends on the age when symptoms appear, and the types of symptoms that develop.

Risks Because these are inherited disorders, risk include a family history of muscular dystrophy.

Prevalence Types may be more prevalent in some cultures. Both sexes tend to be affected equally, depending upon the type. Many muscular dystrophies occur in childhood, others occur as late as 60 years of age.

Diagnosis Diagnosis is usually made through an EMG; (electromyogram), a test in which the electrical activity in muscle is analyzed after being amplified, displayed, and recorded. Diagnosis may also be determined through a blood test or muscle biopsy.

Treatment Stretching and range of motion exercise Occupational therapy Physical therapy Aquatic therapy Not too much exercise

How Many People Are Affected by Muscular Disease It is estimated that between 50, ,000 are affected annually. This number seems to be growing each year due to advanced technology and earlier testing.

Prevention Duchenne muscular dystrophy can be detected with about 95 % accuracy by genetic studies performed during pregnancy.

References Angelini, C. & Danieli, G.A. & Fontanari, D. (Eds.). Muscular dystrophy research: Advances and new trends. Amsterdam: Excerpta Medica Dudley, W. (Ed.). (1991). Epidemics. San Diego: Greenhaven Press. Kittredge, M. (1990). The human body: an over view. New York: CHEALSEA HOUSE PUBLISHERS. Muscular Dystrophy Association. Retrieved October 14,2002 from the World Wide Web: Sipe, J. D., & Kelly, C. A., & McNicol, L. A. (Eds.). (2002). Reparative medicine: growing tissue and organs. New York: The New York Academy of Science.